Primary Hyperoxaluria type 2 via the GRHPR Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7249 GRHPR 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7249GRHPR81479 81479(x2) $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Primary hyperoxaluria type 2 (PH2) is an autosomal recessive disorder of glyoxylate metabolism characterized by an elevated urinary excretion of oxalate and L-glycerate (Rumsby 2011; Cramer et al. 1999). The increased oxalate excretion causes nephrolithiasis, nephrocalcinosis and renal failure followed by systemic oxalate deposition. Age at onset of PH2 is typically in childhood.

Genetics

Primary hyperoxaluria type 2 is an autosomal recessive disorder caused by defects in the GRHPR gene (Cramer et al. 1999; Webster et al. 2000; Cregeen et al. 2003). GRHPR has 9 coding exons that encode the glyoxylate reductase/hydroxypyruvate reductase, which catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. Genetic defects of GRHPR throughout the whole coding region include missense, nonsense, splicing site mutations and small deletion/insertions (Human Gene Mutation Database). Exon-level large deletions involving GRHPR have not been reported.

Clinical Sensitivity - Sequencing with CNV PG-Select

Sequence analysis can detect nearly 100% of pathogenic GRHPR alleles in PH2-affected individuals (Rumsby 2011).

Testing Strategy

This test provides full coverage of all coding exons of the GRHPR gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with primary hyperoxaluria type 2. Testing is also indicated for family members of patients who have known GRHPR mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GRHPR.

Gene

Official Gene Symbol OMIM ID
GRHPR 604296
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Primary Hyperoxaluria, Type II AR 260000

Related Tests

Name
Nephrolithiasis and Nephrocalcinosis Panel
Primary Hyperoxaluria Panel

Citations

  • Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP. 1999. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum. Mol. Genet. 8: 2063-2069. PubMed ID: 10484776
  • Cregeen DP, Williams EL, Hulton S, Rumsby G. 2003. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum. Mutat. 22: 497. PubMed ID: 14635115
  • Human Gene Mutation Database (Bio-base).
  • Rumsby G. 2011. Primary Hyperoxaluria Type 2. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviewsTM, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301742
  • Webster KE, Ferree PM, Holmes RP, Cramer SD. 2000. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). Hum. Genet. 107: 176-185. PubMed ID: 11030416

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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